About   Help   FAQ
Disease Ontology Browser
beta-ketothiolase deficiency (DOID:14723)
Alliance: disease page
Synonyms: 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; Mitochondrial acetoacetyl-CoA Thiolase deficiency; peroxisomal thiolase deficiency
Alt IDs: OMIM:203750, MESH:C535818, ORDO:134, UMLS_CUI:C1533628
Definition: An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
01/31/2023
MGI 6.22
The Jackson Laboratory